PURPOSE: Conflicting challenges abound in the management of the newborn with intractable epilepsy related to hemimegalencephaly. Early hemispherectomy to stop seizures and prevent deleterious consequences to future neurocognitive development must be weighed against the technical and anesthetic challenges of performing major hemispheric surgery in the neonate. METHODS: We hereby present our experience with two neonates with hemimegalencephaly and intractable seizures who were managed using a strategy of initial minimally invasive embolization of the cerebral blood supply to the involved hemisphere...

Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells...

PURPOSE OF REVIEW: This article strives to review and summarize selected recent literature and topics contributing to a greater understanding of the diagnosis and treatments of neonatal seizures that have emerged in the past several years. RECENT FINDINGS: Continuous EEG is recommended as the gold standard for neonatal seizure monitoring as it can provide additional information that may stratify patients by etiology, as well as identify at-risk groups of newborns for neuromonitoring...

Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate it from other causes of intellectual disability or learning disabilities. Dietary management and arginine supplementation, if initiated early, may ameliorate symptoms.Because of the nonspecific nature of the symptoms and the possibility for therapeutic management, ASL deficiency is part of the recommended uniform screening panel for newborn screening in the USA...

The majority of neonatal seizures are of acute symptomatic origin, and their occurrence is associated with higher mortality and morbidity compared with the general population, even if there is conflicting evidence of a detrimental effect per se. Etiology is considered the main determinant of outcome, but other factors, including gestational age, brain damage severity, neonatal neurological examination, and electroencephalographically (EEG) interictal and ictal characteristics are also related to neurodevelopmental outcome or death...

About 25% of seizures in the neonatal period have causes other than asphyxia, ischaemia or intracranial bleeding. Among these are primary genetic epileptic encephalopathies with sometimes poor prognosis and high mortality. In addition, some forms of neonatal infant seizures are due to inborn errors of metabolism that do not respond to common AEDs, but are amenable to specific treatment. In this situation, early recognition can allow seizure control and will prevent neurological deterioration and long-term sequelae...

INTRODUCTION: Acute neonatal seizures are the most frequent neurological complication in the neonatal intensive care units and the seizing newborns have an increased risk of long-term morbidity. However, the relationship between neonatal seizures and the development of epilepsy later in life is still unclear. METHODS: We performed a literature review using the search terms "neonatal seizures AND outcome", "neonatal seizures AND epilepsy", "neonatal seizures AND post-neonatal epilepsy", including secondary sources of data such as reference lists of articles reviewed...

BACKGROUND: Epilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3-5 months, after a period of latent epileptogenesis, but some develop epilepsy earlier. AIMS: The aim of this work was to identify incidence, clinical characteristics, and risk factors for neonatal onset of epilepsy in a large cohort of TSC patients. METHODS: A retrospective review of medical data of 421 TSC patients was performed. Patients who developed epilepsy within first 4 weeks of life were included in the study...

OBJECTIVE: The prevalence of epilepsy in patients with Down syndrome (DS) is 5-13%, which is higher than the prevalence in the general population. Transient hyperammonemia is often observed following seizure, but it typically resolves within a day. Here, we describe the case a 37-year-old woman who had DS and a history of adult-onset epilepsy and was admitted to our hospital with recurrent seizures. After admission, her ammonia levels fluctuated without any apparent cause, and dynamic computed tomography revealed a portosystemic shunt...

Seizures and intracranial hemorrhage are possible medical diseases that any obstetrician may encounter. This article reviews the cause, treatment, and medical management in pregnancy for seizures and intracranial hemorrhage, and how the two can overlap into preeclampsia or eclampsia. This article also highlights some challenging management issues from the obstetrician's perspective.

PURPOSE: The aim of this study is to describe a series of pediatric hemispherectomies, reviewing pathologic substrate, epilepsy characteristics and seizure outcome as well as developmental profiles, before and after surgery, in different domains. METHODS: Seventeen patients with full pre-surgical work-up, minimum follow-up of 12 months, and at least one post-surgical neuropsychological evaluation were selected. Three had Rasmussen encephalitis (RE), five hemispheric malformations of cortical development (MCD), and nine hemispheric vascular lesions...

Sturge-Weber syndrome is a neurocutaneous disorder with skin, eye, and brain involvement. Prior series suggest about 50% of patients have seizures/neurodeterioration. Low-dose (3-5 mg/kg/d) aspirin use in this population is controversial. This study further addresses the side effects and outcomes of low-dose aspirin usage in Sturge-Weber syndrome. Fifty-eight subjects on aspirin with brain involvement were analyzed in a retrospective chart review. Charts were evaluated for brain involvement, age at first seizure, and side effects...

Benign epilepsy with centrotemporal spikes, early-onset childhood occipital epilepsy (Panayiotopoulos syndrome [PS]) and late-onset childhood occipital epilepsy (Gastaut type [LOCE-G]) are the principal pediatric focal epilepsy syndromes. They share major common characteristics: the appearance and resolution of electroclinical features are age related, there is a strong genetic predisposition, the clinical course is often mild with infrequent and easy to control seizures, interictal epileptiform activity is disproportionately abundant when compared with the clinical correlate, and tends to potentiate and generalize during sleep...

AIM: The aim of this study was to evaluate the long-term results of resective surgery on children with difficult-to-treat epilepsy in Norway. METHODS: In the period 1995-2004, 64 surgical procedures (54 resections and 10 functional hemispherotomies) were performed in 54 children. The children's medical records were retrospectively reviewed at a minimum of 2 years after surgery. We sent a questionnaire regarding their epilepsy (seizures, usage of antiepileptic drugs) and general functioning (social situation, motor, language, cognition, behavioural or emotional problems, any remedial action) to the children/parents after a mean follow-up period of 7 years...

PURPOSE: To determine the prevalence and identify predictors of medical intractability in children presenting with epilepsy before 36 months of age, and to assess the effect of medical intractability on long-term mortality and intellectual function. METHODS: Children with newly diagnosed epilepsy before 36 months between 1980 and 2009 while resident in Olmsted County, MN, were identified. Medical records were reviewed to collect epilepsy-specific variables and long-term outcome data...

In cortical and hippocampal neurons, cation-chloride cotransporters (CCCs) control the reversal potential (EGABA) of GABAA receptor-mediated current and voltage responses and, consequently, they modulate the efficacy of GABAergic inhibition. Two members of the CCC family, KCC2 (the major neuron-specific K-Cl cotransporter; KCC isoform 2) and NKCC1 (the Na-K-2Cl cotransporter isoform 1 which is expressed in both neurons and glial cells) have attracted much interest in studies on GABAergic signaling under both normal and pathophysiological conditions, such as epilepsy...

A retrospective review of children with epilepsy and obstructive sleep apnea, treated surgically for their obstructive sleep apnea from January 2008-October 2010, was performed for age, sex, type of epilepsy, antiseizure medications, sleep-study data, and changes in seizure frequency. Twenty-seven subjects (median age, 5 years) with no adjustment to their medications around their time of surgery were identified. Three months after surgery, 10 (37%) patients became seizure-free, three (11%) demonstrated >50% seizure-reduction, and six (22%) exhibited an amelioration of seizure frequency...